rs2439522

Variant names:

• chr8-96521538-G-A
• rs2439522
• NM_002998.4:c.60+27207G>A

Variant summary

Our verdict is Benign. The variant received -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The NM_002998.4(SDC2):​c.60+27207G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.839 in 152,218 control chromosomes in the GnomAD database, including 55,070 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.84 (55070 hom., cov: 32)
• Consequence: SDC2 NM_002998.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.214
• Publications: 4 publications found

Genes affected

SDC2 (HGNC:10659): (syndecan 2) The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-2 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-2 expression has been detected in several different tumor types. [provided by RefSeq, Jul 2008]

ACMG classification

Our verdict: Benign. The variant received -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.42).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.934 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SDC2	NM_002998.4	c.60+27207G>A		intron_variant	Intron 1 of 4	ENST00000302190.9	NP_002989.2
SDC2	XM_024447228.2	c.-7887G>A		5_prime_UTR_variant	Exon 1 of 6		XP_024302996.1
SDC2	XM_047422076.1	c.-15915G>A		5_prime_UTR_variant	Exon 1 of 5		XP_047278032.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SDC2	ENST00000302190.9	c.60+27207G>A		intron_variant	Intron 1 of 4	1	NM_002998.4	ENSP00000307046.4

Frequencies

GnomAD3 genomes AF: 0.839 AC: 127668 AN: 152100 Hom.: 55029 Cov.: 32

Gnomad AFR AF: 0.942

Gnomad AMI AF: 0.887

Gnomad AMR AF: 0.689

Gnomad ASJ AF: 0.885

Gnomad EAS AF: 0.297

Gnomad SAS AF: 0.620

Gnomad FIN AF: 0.809

Gnomad MID AF: 0.921

Gnomad NFE AF: 0.869

Gnomad OTH AF: 0.850

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.839 AC: 127764 AN: 152218 Hom.: 55070 Cov.: 32 AF XY: 0.827 AC XY: 61562 AN XY: 74416

African (AFR) AF: 0.942 AC: 39128 AN: 41550

American (AMR) AF: 0.688 AC: 10524 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.885 AC: 3073 AN: 3472

East Asian (EAS) AF: 0.298 AC: 1537 AN: 5160

South Asian (SAS) AF: 0.621 AC: 2990 AN: 4818

European-Finnish (FIN) AF: 0.809 AC: 8572 AN: 10600

Middle Eastern (MID) AF: 0.918 AC: 270 AN: 294

European-Non Finnish (NFE) AF: 0.869 AC: 59076 AN: 68010

Other (OTH) AF: 0.844 AC: 1785 AN: 2114

Alfa AF: 0.850 Hom.: 81777

Bravo AF: 0.837

Asia WGS AF: 0.522 AC: 1817 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.42
CADD	Benign	12
DANN	Benign	0.70
PhyloP100		-0.21
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs2439522; hg19: chr8-97533766;